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Companies Step Up to Help Produce Protective Equipment during Pandemic

Innovative thinking and ideas know no limits in the Rocket City, famous for finding solutions to complex problems and managing complicated situations.

The list of needs from the hospitals as they ramp up preparations for a potential surge in COVID-19 cases include surgical and procedural masks, N95 masks, isolation gowns, gloves, face shields, face goggles, ventilators, and swabs. However, it is the “other things” category that breathes life into Huntsville’s smartest minds during this unprecedented medical crisis.

Huntsville Hospital and Crestwood Medical Center are, of course, at the heart of these efforts. The Huntsville-Madison County Chamber of Commerce has taken unprecedented steps to coordinate small business and manufacturing efforts to provide additional equipment and supplies to health care providers throughout the community, in the event our area gets overwhelmed with COVID-19 cases.

From the very beginning of the coronavirus crisis, Madison County companies and manufacturers large and small have been participating in these efforts, some adjusting their operations, while others are adapting to needs as they arise, and donating goods and services.

Lucia Cape, senior vice president of Economic Development at the Chamber, is spearheading the manufacturing efforts, maintaining an ongoing list of needed items and locations where businesses can drop off those donations, including the Chamber office on Church Street downtown.

“The manufacturing of these supplies, whether it is something you already manufacture, or something you can modify, the Chamber is running that information down and giving it to Huntsville Hospital and Crestwood to help them coordinate it,” Cape said. “Both hospitals are getting overwhelmed right now with the medical aspects of COVID-19 and this helps keep things in the proper channels.”

The Chamber holds regular calls with manufacturers to get clarification about what items can and can’t be made outside and over their existing supply chain or existing distributor base; and what the procedures are for getting a design approved.

Many of the requests are in reference to face shields, but Cape said several companies responded, offering anything from machine tooling shops that can make metal parts for ventilation carts and shelves, to 3D printers, and shops which specialize in custom injection moldings that can make pretty much anything.

And anything can mean taking on unexpected problems.

One of the things that has arisen from the making of N95 masks, for instance, is that prolonged wearing of the masks has shown to cause some skin breakdown on the bridge of the nose of clinical staff. There may be an opportunity for a device that could cushion the nose and prevent that from happening.

Cape said it is things like that that create unexpected opportunities that might not be on an original list of needs, but for which the Chamber is happy to be a clearinghouse.

“If you have things to sell, donate or have some great ideas, bring them to the Chamber so we can make sure they pass through the right channels and we will connect you directly,” Cape said.

Also, if the hospitals reach a point in which they don’t need some of these items any longer, the Chamber is setting up distribution throughout the community to doctor’s offices and clinics inside and outside our community to help.

Other creative ideas consist of converting CPAPs into ventilators; using plexiglass to make intubation domes; and making ventilator helmets based on a design from a company in Texas that looks like a space suit helmet. One manufacturer on a teleconference call with the Chamber hinted that surely someone in Huntsville can make that.

Study: Ventilator helmets said to be better than traditional face masks.

A couple of companies are assessing whether local doctors and respiratory therapists would embrace that kind of therapy if it were available.

Yet another company is tooling up a sanitization assembly line at Lincoln Mill that can bleach manufacturing parts intended to go into the supply chain.

Another company has offered to repair broken or failing electronic, plastic, or metal equipment.

Companies are also looking at ways to be more efficient, for instance, cutting the filtration material used for making N95 masks differently, and basically getting four masks out of what was originally one.

“We just want to make sure before anyone goes down that track that it is something the hospitals can accept, made by someone from outside the supply chain,” said a spokesperson for the company.

A representative from Huntsville Hospital said he thinks the FDA has waived some of the rules during this pandemic and if they begin running low on anything at some point, emergency authorizations they have already received, give them clear guidance that if reasonable health care professionals and doctors agree these ideas are an acceptable way to do it, then it will be okay.

Many large companies have stepped up to the plate as well.

PPG, which employs 700 people in Huntsville, announced it will donate 50,000 surgical masks and 10,000 N95 masks to several hospitals in the United States including Huntsville Hospital and Crestwood Medical Center.

“PPG is proud to support the medical community as they courageously continue their work on the frontlines of this global pandemic,” said Michael H. McGarry, PPG chairman and chief executive officer. “As One PPG family, we will continue to work with our community partners to provide support and deploy resources wherever possible. We look forward to a brighter future, together.”

Several local companies have donated personal protective equipment (PPE) to help hospitals and medical workers stock up on supplies. Adtran, Aerojet Rocketdyne, ATI, Brown Precision, Bruderer, Dynetics, Facebook, HudsonAlpha, Huntsville Utilities, John Blue Company, Matcor-Matsu, Mazda, Toyota Manufacturing USA, Inc., Mitchell Plastics, Navistar, Polaris, Remington, Turner Construction, TVA, and the UAH College of Nursing have all donated several thousand pairs of reusable protective eyewear to Huntsville Hospital, Madison Hospital and Crestwood Medical Center.

Toyota Motor Manufacturing Alabama, one of the area’s top employers, has kicked into high gear in response to the COVID-19 pandemic. TMMA is helping curb the spread of the virus by donating masks, safety glasses, shoe/boot covers, gloves, blankets, and cotton swabs to medical personnel.

The automobile engine company is also utilizing its facilities to mass fabricate 3-D printed face shields here in Huntsville.

According to Jeff Samms, COO of the Huntsville Hospital System, Toyota has a nice design for the shields and are now making hundreds of them for the hospital..

“The unknowns for all of us on this is what’s going to affect utilization,” he said. “COVID-19 patients use this isolation equipment at many times the normal rate, so there is an exponential growth in our use of the product, and we don’t know what the demand is going to be.”

Most of the hospitals admit their normal supply chains are broken right now and they are never quite sure what they’re going to get.

Toyota is also offering manufacturing and engineering expertise in support of any company seeking to increase their capacity for making medical supplies and equipment like ventilators and respirators.

The automaker continues to assist in providing essential supplies and emergency relief through local organizations and nonprofits, including significant monetary, “in-kind” donations to the United Way, community food banks, and to other key non-profit organizations geared towards helping those in need.

“Toyota’s core value has always been to contribute to society in meaningful ways beyond providing mobility for our customers,” said Ted Ogawa, incoming CEO, TMNA. “With our plants idled and our dealers focused on servicing customers, we are eager to contribute our expertise and know-how in order to help quickly bring to market the medical supplies and equipment needed to combat the COVID crisis. Our message to the medical equipment community is we are here to help, please utilize our expertise.”

Although currently, the “numbers” – that is the number of infected patients in Madison County hospitals – have not reached the critical level first projected, Chamber President and CEO Chip Cherry said, “We are incredibly grateful for the response from our business community to help our hospitals and first responders stock up on their supplies.

“It has been so good to see boxes of items come in over the last few days. We know these will help in the days to come. We know there is strength in numbers, and we and our members are committed to getting through this together.”

 

 

HudsonAlpha Brings Power of Genomics to Capitol Hill

WASHINGTON – Along with research, education is a key element of the HudsonAlpha Institute for Biotechnology’s mission.

So, officials with the Huntsville-based center went on a mission to Capitol Hill last month and presented “Genomics in Agriculture 101: Exploring the Basics” in the Rayburn House Office Building. It was the third time HudsonAlpha held a “Genomics 101” session for lawmakers and their staff.

Members of Congress, their staff and House and Senate Committee staff members engaged with Jeremy Schmutz, faculty investigator and co-director of the HudsonAlpha Genome Sequencing Center; Dr. Kankshita Swaminathan, faculty investigator; and Dr. Neil Lamb, vice president for Educational Outreach, during the briefing.

The purpose for “Genomics in Agriculture 101” was to provide a forum for leaders in plant genomics to interact with the leaders who drive national policy, impacting agriculture for the United States and beyond.

“Enormous progress has been made in plant genomics in just a few short years. We have gone from generating a single reference genome for a single plant, to generating hundreds of reference plant genomes and detailed diversity of crop collections,” said Schmutz. “These advances are providing solutions to the many agricultural challenges faced by the farming community every day.

“Genomics 101 provided decision makers on national policy an opportunity to learn more about the reach and impact of genomics in agriculture.”

Some of the topics discussed at the briefing involved the power and utility of the information gained through genomics, specifically regarding improvement of crop yields; acceleration of breeding cycles; resistance to diseases and pests; reaction and resulting changes based as a result of drought or floods. Additionally, the group from HudsonAlpha stressed the importance of collaboration within the field of plant genomics.

HudsonAlpha Scientists Help Secure the Future of Chocolate with Improved Cacao Reference Genome

People around the world consumed nearly 7.7 million tons of chocolate in the last year, but the cacao crop that supports the production of these sweets is under significant environmental threat.

Millions of cacao farmers in West Africa, Southeast Asia and Latin America feel the pressures of ever-increasing consumption, a changing climate and devastating fungal infections. In 2017, The New York Times said there is “a battle to save the world’s favorite treat.”

Scientists at the HudsonAlpha Institute for Biotechnology with funding from Mars Wrigley Confectionery have created the newest weapon in that battle — an improved reference genome to help researchers and farmers develop healthier, more productive cacao crops.

Sweets Under Siege

The production of one of the world’s favorite delicacies relies on a particularly delicate plant. Cacao can only be grown within 20 degrees of the equator, and global studies suggest that the effects of climate change will shrink the farmland currently suitable for production even further. Increasing temperature and decreasing humidity in the areas that currently produce cacao will mean the crop must be grown at higher elevations.

Cacao also proves particularly vulnerable to fungi and diseases. It suffers from a number of menacingly named blights, including frosty pod rot, witches’ broom, black pod and cacao swollen-shoot virus. One fear is that if any of these blights spread from its native region, it could sweep through global crops, devastating worldwide production.

The Newest Weapon in the War to Save Cacao

HudsonAlpha scientists have completed and released an updated reference genome for the tree that produces cacao beans. Researchers generated this resource using advanced long-read sequencers to produce an updated reference genome than the first version, which was completed in 2010. 

A reference genome identifies parts of the genome to be carried through to the next generation of plants, such as genes that promote drought tolerance, increase yield or improve disease resistance. Then, researchers can sequence each generation of selectively bred plants to quickly find which ones carry the desirable traits.

This most recent effort was was led by HudsonAlpha faculty investigators Dr. Jane Grimwood and Jeremy Schmutz.

“As our technology improves, we’re able to produce more detailed, versatile reference genomes, which are critical for the kind of rapid crop improvement you want to see with cacao,” Schmutz said.

Farmers have used selective breeding to improve crops for centuries. The process works by crossbreeding two plants, hoping to combine desirable traits and make hardier plants. Then, the offspring with those traits are bred again. This selective breeding process takes time though, because each crop must mature. A cacao tree, for example, takes about five years to start generating fruit.

A Better “Chocolate Tree”

Cacao trees, like many modern crops, do not show much genetic diversity. Most of the cacao trees worldwide come from a handful of clones selected in the 1940s. Because the trees are so closely related, they have similar genetic weaknesses. If a disease reaches a group of cacao trees that doesn’t carry any genetic resistance to that disease, it can destroy the entire crop. 

“Having so little genetic diversity leaves the cacao tree vulnerable,” said Grimwood. “However, it also means that genes can be exchanged between trees, which gives researchers and farmers an opportunity.”

Using this new reference genome, researchers will be able to guide crossbreeding and hybridization efforts more quickly. That means traits such as drought tolerance can be bred into a population faster and disease resistances can be introduced more efficiently.

The “chocolate tree” remains under threat, but now scientists and farmers alike have a more complete tool kit to produce more robust cacao crops.

HudsonAlpha Generates $2.45B Economic Impact for Alabama, Study Shows

The HudsonAlpha Institute for Biotechnology contributed a whopping $2.45 billion to Alabama’s statewide economy, according to a data analysis from the Center for Management & Economic Research at the University of Alabama in Huntsville. The data, taken from an analysis conducted between 2006 and 2018 said three factors had the most impact including employment, revenue and capital expenditures.

The study reflects data from more than 30 resident associate companies located on the HudsonAlpha campus through 2018, but that number has grown to more than 40 companies currently, who are leasing lab and entrepreneurial office space on campus.

The data includes the impact HudsonAlpha’s entrepreneurial bioscience ecosystem had on its expanding footprint in Cummings Research Park as those associates have expanded into multiple sectors across the biosciences including drugs, pharmaceuticals, medical devices, equipment, and research, testing and medical labs, which represent 71 percent of the economic dollar impact.

“HudsonAlpha has been instrumental in growing the business of biotech in North Alabama,” said Jim Hudson, co-founder of HudsonAlpha. “Just over ten years ago, there were only a few people and companies dedicated to working in biotech, but we have a remarkable track record of success and growth. These numbers show that the model we [Hudson and late co-founder Lonnie McMillian] created works, and we are positioned for the future.”  

HudsonAlpha co-founders Jim Hudson, left, and the late Lonnie McMillian. (Photo courtesy of HudsonAlpha).

A key to the success of HudsonAlpha is the uniqueness of its associate companies.

“Biotech companies located at HudsonAlpha have opportunities that are not available anywhere else,” said Carter Wells, vice president for economic development at HudsonAlpha. “On campus, entrepreneurs and companies of every stage and size can interact with global leaders in genomics; participate in mentoring initiatives with men and women with decades of success in science and business; and work in an environment of cooperation and encouragement where people see the benefits in everyone’s success.

“The model created by the founders is unique, but the 800 people on campus make HudsonAlpha a destination for those who want to be on the leading edge of biotech.”

According to the study, HudsonAlpha has contributed 2,063 direct and multiplier jobs to Alabama with an estimated $863 million in payroll since 2006. This exponential growth is due in part to the additional space on HudsonAlpha’s campus such as the Paul Propst Center, which opened in fall 2018. The 105,000 square-foot facility houses education and research programs, as well as several of the growing for-profit associate companies. 

“HudsonAlpha is a critical component to Alabama being in position to expand our bioscience activity,” said Gov. Kay Ivey. “The positive impact of HudsonAlpha and the 40+ biotech companies to Alabama’s economy is remarkable but there is so much more that they do for our state.

“HudsonAlpha is making breakthroughs on cancer, working with Alabama farmers for better crops, diagnosing rare disease for children and educating students, teachers and the public. I can’t wait to see what’s next for HudsonAlpha.”

“This study reflects our ability to train, recruit and retain top biotech talent in Alabama and help strengthen the state’s economy,” said HudsonAlpha President/Science Director Dr. Rick Myers. “It’s important to have our campus contribute economic value and provide higher-wage jobs in Alabama in an industry that is advancing human healthcare and the sustainability of food and energy resources.”

Windham named COO of HudsonAlpha

Long-time local business and community leader Danny Windham has been named chief operating officer of the HudsonAlpha Institute for Biotechnology.

Windham brings more than 20 years of leadership experience to HudsonAlpha, serving as president and COO at Adtran (2005-07) and CEO at Digium (2007-18).

“I have great admiration for the founders and leaders of HudsonAlpha,” said Windham. “I’m excited to have the opportunity to work alongside such a talented team and help ensure the institute’s mission endures for years to come.”

He is involved in the entrepreneurial community — as a mentor and board member — and has supported the development of several startupss.

Windham earned a bachelor’s in electrical engineering from Mississippi State University, where he was named a distinguished engineering Fellow in 2001, and a master’s in business administration from Florida Tech.

“Danny is well-known to the Huntsville research and technology community for his leadership, advocacy and wisdom,” said Dr. Rick Myers, HudsonAlpha president and science director. “We are honored and excited to have him join the HudsonAlpha team.”

Windham also has a strong commitment to giving back to his community. He serves on multiple boards including the Huntsville/Madison County Chamber of Commerce, Biztech and Leadership Alabama. He was also chairman of the Madison YMCA fundraising committee and a volunteer pilot for Angel Flight, a nonprofit organization that provides free air transportation for individuals with any legitimate, charitable, medically related need.

HudsonAlpha mourns passing of co-founder Lonnie McMillian

The team at the HudsonAlpha Institute for Biotechnology mourns the passing of an inspirational leader, Lonnie McMillian, the co-founder and chairman emeritus of the Institute.

McMillian died Sunday. He was 90.

McMillian was a founder of Adtran, a leading global provider of networking and communications equipment. When he retired from the company in 2001, he worked with longtime friend Jim Hudson to create HudsonAlpha.

The pair set out to develop a unique vision — a nonprofit institute that could combine the power of academic research with the resources of the commercial sector to bring discoveries to market quicker.

Their focus was to deliver better medical care to people everywhere. McMillian and Hudson’s belief in the Institute and their devotion to its success have impacted countless lives the world over, through advancements in diagnosis, treatment and our fundamental understanding of the genome.

“Lonnie was so deeply humble,” Hudson said of his friend, “that not many people have a true scope of how much he gave to the world. The institute is only one example, and I feel blessed for the opportunity to have worked on it with him.

“He will be dearly missed.”

McMillian was a generous philanthropist, and he lived out his commitment to improving the human condition through support of educational, scientific and other charitable causes. Many of his gifts will never be recognized due to his desire for anonymity.

“He was an innovator,” said Dr. Rick Myers, president of HudsonAlpha. “Lonnie was a visionary and a gift to all of us that knew him — and many more who were impacted by his generosity without ever realizing it. We have our work cut out for us to live up to his legacy.”

HudsonAlpha’s Brewer named IAAP Foundation board chair

Stacey Brewer, executive coordinator for Dr. Neil Lamb at the HudsonAlpha Institute for Biotechnology, was recently appointed as board chair for the International Association of Administrative Professionals Foundation. Brewer will serve a two-year term.

“Successful organizations depend on top-tier administrative professionals like Stacey Brewer,” said Lamb. “Admins are arguably the critical ‘connective tissue’ that keep a group informed and on track. Stacey is key to our educational outreach program’s success and I’m appreciative that IAAP has equipped him with relevant and timely professional development tools.

“We’re proud of his work with the Foundation and excited about his appointment as board chair.”

With New Propst Center, HudsonAlpha’s Mission Continues

Carter Wells, executive vice president of economic development, left, and Dr. Rick Myers, president and science director, look over containers filled with more than five million beads representing the number of people who have been touched by HAIB’s education outreach program over the past 10 years. (Photo by Wendy Reeves)

Brightly colored beads in clear containers of various sizes and shapes represent more than 5 million learners who have experienced a HudsonAlpha Institute for Biotechnology (HAIB) educational outreach opportunity.

The display covering the past 10 years sits on the second floor of the new Paul Propst Center, which opened in September.

The education team, headed by Dr. Neil Lamb, has reached students, educators, clinical professionals, patients and members of the public who participated in internships, teacher training workshops, public seminars, clinical training and digital downloads for educational games like iCell and Touching Triton, said Carter Wells, HudsonAlpha vice president of economic development.

The display is more than a creative display of numbers as it represents one of the four missions set forth by founders Jim Hudson and Lonnie McMillian before the HAIB opened its doors 10 years ago. It represents how far HAIB has come with the opening of its fourth facility on the campus.

The pair set out to create a center to conduct genomics-based research to improve human health and well being; implement genomic medicine, spark economic development; and provide educational outreach to nurture the next generation of biotech researchers and entrepreneurs, as well as to create a biotech literate public.

The education outreach team has three new learning labs, office and collaboration space spread across two floors in the new facility. Dr. Rick Myers, president and science director at HudsonAlpha, said the new space will allow the education team to increase its teaching opportunities.

Many learners who have experienced HudsonAlpha’s hands-on classroom activities, or participated in summer camps or internship programs are now a part of the HudsonAlpha workforce, or working in life science research institutes or companies across the country.

The Propst Center consists of 105,000 square feet housing about 150 tenants. The new building was funded by a $20 million state grant, and a donation by Huntsville businessman and philanthropist William “Bill” Propst Jr. The building is named for his father, a North Alabama minister.

On the second floor, those small, colorful beads are just one small example of what has transpired at the growing campus during its first 10 years. Those accomplishments lead to the construction of the new Propst Center, which looks and feels similar to the main building, where companies such as Conversant Bio started growing.

The company, which recently merged with four others to become Discovery Life Sciences, provides researchers around the world with hyper-annotated tissue samples in order to conduct informed, cutting edge investigations into many of today’s most problematic diseases.

“There was a lot more open space here when we started, and we started to take small bites of the apple here and there and we finally ran out of space,” said Marshall Schreeder, co-founder of Conversant Bio and vice president of sales and marketing for DLS. “We feel both fortunate to be a part of HudsonAlpha and the Huntsville community. I’m from here and love it here but we could have started our company anywhere.

“What we didn’t realize is how this community would embrace us … and how well this vision would work out.”

Other HudsonAlpha associate companies in the Propst Center include Microarrays, Alimetrix and iRepertoire, along with HudsonAlpha Software Development and Informatics (SDI), which develops software to analyze and interpret genomic and clinical datasets and works to identify and understand the genetic underpinnings of diseases.

“We’re a lot farther along than I ever expected and I’m a fairly optimistic person,” Myers said. “But this synergy that happens here on our campus … we call it our ecosystem with 800 people on our campus, there’s lots of interaction … and I didn’t anticipate how powerful it would be.”

 

 

 

HudsonAlpha Receives $1.29M for Digital Storytelling Tool

The HudsonAlpha Institute for Biotechnology has received a five-year, $1.29 million grant to develop a story-driven digital learning platform for bioinformatics and infectious disease. The grant comes from the National Institute of General Medical Sciences of the NIH through the Science Education Partnerships Awards (SEPA).

The program, called “Filtered,” takes students on a journey of discovery as they are charged with researching a pandemic outbreak of a mysterious, fictional infectious disease. They’re asked to use a simulated bioinformatics program to compare genetic sequences of viruses to determine the ancestral origin of this novel and deadly pathogen.

Bioinformatics has been characterized as a “Bright Outlook Occupation” by the U.S. Bureau of Labor Statistics, projected to grow much faster than average over the period 2014-2024, with 100,000 or more projected job openings.

“We start with the need,” said Dr. Neil Lamb, vice president for Educational Outreach at HudsonAlpha. “We found … that it’s already a challenge to hire people in the bioinformatics space. It requires such a unique blend of science and computational backgrounds.”

“It’s a fascinating job field and we knew students would be hooked if they got a chance to experience it for themselves.”

Students can interact on a tablet or mobile device and an online version will also be produced.

HudsonAlpha Scientist on Forefront of Addressing Rare Diseases

 

Dr. David Bick named to Alabama Rare Disease Council

Alabama is working to be among the leaders in diagnosing rare diseases and Dr. David Bick of

HudsonAlpha’s Institute for Biotechnology is part of the strategy.

Bick, a clinical geneticist and a faculty investigator at HudsonAlpha, sees rare disease patients

at the Smith Family Clinic for Genomic Medicine located on the institute’s Huntsville campus.

Because of his expertise in genomic medicine and more than 20 years of clinical experience

Bick was recently appointed by Gov. Kay Ivey to the newly created Alabama Rare Disease

Council, established by the Alabama Legislature.

“There are a lot of people in Alabama with rare diseases and our purpose is to help our state’s

leaders address those needs,” Bick says of the 10-member council. “We want to improve the

healthcare of the citizens of our state and our leaders want to get expert advice in thinking

about it.”

He describes it as a diverse council with everyone from healthcare providers to researchers.

“There’s a lot of representation on the council that bring a variety of voices together in a room

if you will. The council is charged with trying to improve our understanding of how to

diagnose and make an impact on these on families dealing with rare diseases.

“If we can collect information on impact and cost and coordinate and collaborate among

different groups as a way to better inform lawmakers about what’s going on we can help

citizens to improve their care and overall health,” he added.

He says the council was established to be a voice for individuals with rare conditions, and

similar council’s are being set up around the country.

It’s also about realization of what genetics testing can provide.

“Being a geneticist, we see people with neurologic or immunologic conditions that while they

may be rare conditions, there are quite a bit (of people) out there with it. There’s a lot of

work being done in Alabama for medicine in general but one thing we tried to emphasize is

rare disease is not so rare,” he says.

For example, he says, Cystic fibrosis affects one in 2,500.

“That doesn’t sound like a very big number but we have all heard of it,” he says. “Take that

across the whole state and it all adds up.”

Another example, he says, is Spinal Muscular Atrophy, a condition that involves spinal cord

cells dying, usually in children but has been seen in adults at about one in 10,000.

“When you add up the numbers, it adds up to big numbers,” Bick says. “If one in 10 Americans

have a rare diseases, that’s about 400,000 in Alabama.”

Patients often arrive a Bick’s office after seeing multiple doctors or specialists who have gone

as far as they can with traditional testing models.

“A neurologist can say to a person who is having trouble walking that their condition has

something with the nerves in the legs,” Bick says. “It may be a peripheral neuropathy and

simple testing shows that but it may be that one of these rare conditions in which the nerves

are not working properly so we do DNA testing and look at the genes to determine the cause.”

For some, there is treatment. For other conditions, there is no treatment but there may be

clinical or pharmaceutical trials in which the patient might be interested in participating in or

following updates.

 Bick says when there are things that are not known from the testing, at least once it is known

what the condition is, the tests show if other family members are at risk for the condition and

if the condition will progress and if so, how it will progress.

 “People want to know what will happen to them, for example, if it’s nerves in the legs, could it

also impact other parts of the body? Sometimes it is yes, there are things we have to watch

out for or it may be simply the current symptoms are the only thing they will experience.

Bick says there is “tons” of research going on around rare genetic conditions for people who

have known conditions.

“We study them because we know how to develop a treatment but if we do not know what a

person has, how can we develop new treatments.”

Genetic testing is for those who have little or no family medical history. It’s also for those who

can’t get a diagnosis no matter how many tests or doctors they see.

The first step for genetic testing is to call to the clinic or get a doctor referral. A patient will

talk with a genetics counselor and if records are available from other doctors that have been

seen, they will be reviewed and costs will be discussed.

“After genome testing has been completed, if we can identify a genetic issue we will open up

lines of communication with the physician about the condition and see if we can further

identify the problem. Meanwhile, the doctor can tailor the patient’s care,” Bick says.

He says that of the 20,000 genes in the human genome, about 4,000 to 5,000 of them have

been connected to specific conditions. The remainder can be identified as doing its job or it’s

never been connected to a medical problem. Although there are hundreds of new conditions

figured out each year.

 “It gets us to lots of conditions already known and lots of others are being discovered,” Bick

says. “Once we’ve sequenced all the genes of a patient, we can go back every year or couple

of years to see if something new has turned up that would show a connection between a

specific gene and genetic condition.”